Huntington's Disease
Huntington's Disease, Huntington Chorea, (HD) is a hereditary brain disorder that leads to uncontrollable movement, intellectual decline, and emotional problems. It is a disorder passed down through families in which certain nerve cells in the brain waste away, or degenerate. It is named after George Huntington who produced the first detailed clinical description of the disease's progression in the 1870s. Huntington's disease is due to a defect on chromosome #4. The effect causes the DNA to repeat many more times than it is supposed to. Normally, this section of DNA is repeated 10 to 35 times. However, the defect causes it to repeat 36 to 120 times. As genes pass from one generation to the next, the repeats become larger. The larger the defect is, the greater chance the person will begin to show the symptoms of the disease at a younger age. Symptoms A person who has the disease experiences mood swings, irritablility, depression, clumsiness and fidgetting movements.These symptoms usually appear between the ages of 35 and 50. The disease progresses between 15 and 20 years. As the disease progresses, cognitive abilities become more challenging, such as learning new things and driving, and eventually have a great difficulty thinking, feeding themselves and swallowing. Behavior changes: *Antisocial behaviors *Hallucinations *Irritability *Moodiness *Restlessness or fidgeting *Paranoia *Psychosis Abnormal and unusual movements: *Head turning to shift eye position *Facial movements, including grimaces *Slow, uncontrolled movements *Quick, sudden, sometimes wild jerking movements of the arms, legs, face, and other body parts *Unsteady gait Dementia and its symptoms: *Loss of memory *Loss of judgment *Speech changes *Personality changes *Disorientation or confusion Additional symptoms: *Anxiety, stress, and tension *Difficulty swallowing *Speech impairment Symptoms in children: *Rigidity *Slow movements *Tremor Diagnosis Professional genetic counseling is important in the diagnosis of Huntington's disease. While genetic testing (from a blood sample) makes confirmation of the disease relatively easy, it can create difficult questions for patients and families. Depending on their circumstances, patients may be tested either after developing symptoms that point to Huntington's disease or due to family history. Patients who have symptoms will also be tested to rule out other possible causes of the symptoms. Additional tools doctors may use in diagnosis are brain scans such as CT (computed tomography), MRI (magnetic resonance imaging) or EEG (electroencephalography). Prognosis The disease progresses without remission over 10-20 years. Death for most people with Huntington's disease is usually a result of infection, pneumonia, heart failure or choking. It is important to realize that the disease affects everyone differently. The number of repeats directly effects the severity of the disease. Frequency Someone with a parent who has Huntington's disease has a 50 % chance of having the disease as well because it is autosomal dominant. Methods of Inheritance Huntington's disease is a hereditory disorder. Therefore, it must be inherited by a parent. It is autosomal dominant. The child of someone who has Hungtington's disease has a 50% chance of developing the disease later. Possible Treatments Possible treatments include extensive genetic testing, counselling programs, physical therapy, speech therapy. There is currently no cure for the disease, but some medications can control the emotional symptoms and uncontrollable movements associated with the disease. The goal of treatment is to slow down the effects of the disease and help the person function for as long and as comfortably as possible. Medications for this disease vary depending on the symptoms. Generally, dopamine is used to reduce abnormal behaviors and movements. Depression and suicide are common in persons sufferring with the disease. As the disease progresses, a greater need for assistance and care occurs and eventually 24-hour care is needed.